RGD:12894159 Rat Genome Database

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Variant: RGD:12894159 -  Homo sapiens

RGD ID: 12894159
RS ID: rs72658185
ClinVar ID: CV407278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 94,050,339
GRCh38 7 94,421,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000080.2:p.Gly772Ser
NM_000089.4:c.2314G>A
NC_000007.14:g.94421027G>A
LRG_2t1:c.2314G>A
More... 		03/25/2024 missense variant pathogenic|likely pathogenic EDS I; Ehlers-Danlos syndrome, classic type I; Ehlers-Danlos syndrome, classic type, 1; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT; Lobstein disease; Lobstein's Disease; none provided; OI type 1; OI type 1A; OI type 4; OI type IV; OI, TYPE I; Osteogenesis imperfecta tarda; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 1 with dentinogenesis imperfecta; Osteogenesis imperfecta type 1A; Osteogenesis imperfecta type 4; Osteogenesis Imperfecta Type IV; Osteogenesis imperfecta with blue sclerae; Osteogenesis imperfecta with normal sclerae; Osteogenesis imperfecta with opalescent teeth; OSTEOGENESIS IMPERFECTA, TYPE IV, WITH DENTINOGENESIS IMPERFECTA

Variant Details
Variant Transcripts
Gene Symbol:COL1A2
Accession:NM_000089
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 772
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTGPPGPPGPPGPPGLGGNFAAQ
YDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVG
PQGARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV
GPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNPGANGLTGAKGAAGLPGVAGA
PGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRG
SPGSRGLPGADGRAGVMGPPGSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI
GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGP
SGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSG
LPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA
GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPSPAGSRGDGGPPGMTGFPGAAGRTGPPGP
SGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRG
ERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA
GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGD
QGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRAD
QPRSAPSLRPKDYEVDATLKSLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG
ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLLANYASQNITYHCKNSIAYMD
EETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKKTNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDI
GPVCFK*
Variant Samples
Additional References at PubMed
PMID:9272740   PMID:17078022   PMID:23934635   PMID:25741868   PMID:25741905   PMID:26471105   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000481739 CLINVAR
  RCV002230922 CLINVAR
  RCV002244949 CLINVAR
  RCV002279242 CLINVAR
  RCV003988847 CLINVAR
dbSNP (RS) rs72658185 CLINVAR
MedGen C0023931 CLINVAR
  C0029434 CLINVAR
  C0268363 CLINVAR
  C3661900 CLINVAR
  CN293783 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  130000 CLINVAR
  166200 CLINVAR
  166220 CLINVAR
  617821 CLINVAR
SNOMED CT 205497004 CLINVAR
  385482004 CLINVAR
  78314001 CLINVAR